Full data view for gene PRRT2

Information The variants shown are described using the NM_145239.2 transcript reference sequence.

143 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-2640559_*2062725dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-1723709_*4774041del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
./. - c.-230928_*431269dup - - Maternal (confirmed) - pathogenic g.29592782_30257228dup g.29581461_30245907dup - - FAM57B_000004 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-217173_*389665del r.0? p.0? Maternal (confirmed) - pathogenic g.29606538_30215625del g.29595217_30204304del - - FAM57B_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.-5204C>T r.(?) p.(=) Unknown - VUS g.29818506C>T - MAZ(NM_002383.3):c.400C>T (p.(Pro134Ser)) - PRRT2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5177_-5172del r.(?) p.(=) Unknown - VUS g.29818533_29818538del g.29807212_29807217del MAZ(NM_001042539.1):c.424_429del (p.(Ala144_Ala145del)) - MAZ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5095C>T r.(?) p.(=) Unknown - likely benign g.29818615C>T g.29807294C>T MAZ(NM_001042539.1):c.509C>T (p.(Thr170Met)) - PRRT2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2272_-2258del r.(?) p.(=) Unknown - likely benign g.29821438_29821452del g.29810117_29810131del MAZ(NM_001042539.1):c.*46_*60del (p.(=)) - PRRT2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2272_-2258dup r.(?) p.(=) Unknown - likely benign g.29821438_29821452dup - MAZ(NM_002383.4):c.1320_1334dupGGCGGCAGCGGCAGC (p.A444_A448dup) - PRRT2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2269_-2261del r.(?) p.(=) Unknown - likely benign g.29821441_29821449del - MAZ(NM_001042539.1):c.*66_*74del (p.(=)) - PRRT2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2201G>T r.(?) p.(=) Unknown - likely benign g.29821509G>T - MAZ(NM_001042539.1):c.*134G>T (p.(=)) - PRRT2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1034T>C r.(=) p.(=) Parent #1 - benign g.29822676T>C g.29811355T>C - - PRRT2_000023 also found in wild type; c.-368T>C - - rs8054524 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-16C>T r.(?) p.(=) Unknown - likely benign g.29824360C>T g.29813039C>T PRRT2(NM_001256443.2):c.-16C>T - PRRT2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1_1del r.? p.? Unknown - VUS g.29824375_29824376del - PRRT2(NM_145239.3):c.-1_1del (p.(Met1?)) - MVP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8C>G r.(?) p.(Ala3Gly) Unknown - VUS g.29824383C>G - PRRT2(NM_145239.3):c.8C>G (p.A3G) - MVP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Glu23Lys) Unknown - likely benign g.29824442G>A g.29813121G>A PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K) - PRRT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Glu23Lys) Unknown - likely benign g.29824442G>A g.29813121G>A PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K) - PRRT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Glu23Lys) Unknown - likely benign g.29824442G>A g.29813121G>A PRRT2(NM_001256443.1):c.67G>A (p.E23K), PRRT2(NM_001256443.2):c.67G>A (p.E23K), PRRT2(NM_145239.2):c.67G>A (p.E23K) - PRRT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133C>T r.(?) p.(Pro45Ser) Unknown - likely benign g.29824508C>T - PRRT2(NM_001256443.1):c.133C>T (p.P45S) - MVP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148_149insT r.(?) p.(Pro50LeufsTer84) Unknown - pathogenic g.29824523_29824524insT g.29813202_29813203insT - - MVP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151G>T r.(?) p.(Gly51Cys) Unknown - VUS g.29824526G>T g.29813205G>T - - PRRT2_000056 - - - rs751112065 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.171C>T r.(?) p.(Ala57=) Unknown - likely benign g.29824546C>T - PRRT2(NM_001256442.1):c.171C>T (p.(=)) - MVP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.173del r.(?) p.(Pro58Leufs*32) Parent #1 - pathogenic g.29824548del g.29813227del - - PRRT2_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052940 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - VUS g.29824599C>T - PRRT2(NM_145239.2):c.224C>T (p.(Pro75Leu)) - MVP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - likely benign g.29824599C>T - PRRT2(NM_145239.2):c.224C>T (p.(Pro75Leu)) - MVP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.29824600G>A g.29813279G>A PRRT2(NM_001256443.1):c.225G>A (p.P75=), PRRT2(NM_145239.2):c.225G>A (p.P75=) - PRRT2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.29824600G>A g.29813279G>A PRRT2(NM_001256443.1):c.225G>A (p.P75=), PRRT2(NM_145239.2):c.225G>A (p.P75=) - PRRT2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227C>T r.(?) p.(Ala76Val) Unknown - likely benign g.29824602C>T g.29813281C>T PRRT2(NM_145239.2):c.227C>T (p.A76V) - PRRT2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.291del r.(?) p.(Asn98Thrfs*17) Unknown - VUS g.29824666del g.29813345del - - PRRT2_000004 - - - - Germline - - - - - DNA SEQ - - BFIS2 - PubMed: Schubert 2012 - - - - - - - - - 1 Yvonne Weber
+?/. 2 c.324_325del r.(?) p.(Ser110Glnfs*23) Unknown ACMG likely pathogenic (dominant) g.29824699_29824700del g.29813378_29813379del - - PRRT2_000060 ACMG: PVS1, PM2 - ClinVar-000280888 - Germline ? - - - - DNA SEQ-NG-I - - BFIS2 172237 - - F - - - - - - - 1 Andreas Laner
?/. - c.375G>T r.(?) p.(Arg125Ser) Unknown - VUS g.29824750G>T - PRRT2(NM_145239.2):c.375G>T (p.(Arg125Ser)) - MVP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? - c.412C>G r.(?) p.(Pro138Ala) Unknown - benign g.29824787C>G g.29813466C>G - - PRRT2_000005 submitted through SIB; ExPASy_067010 PubMed: Chen 2011 - rs79182085 Germline - - - - - DNA SEQ - - ? - PubMed: Chen 2011 - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.412C>G r.(?) p.(Pro138Ala) Unknown - benign g.29824787C>G g.29813466C>G PRRT2(NM_145239.2):c.412C>G (p.P138A) - PRRT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.412C>G r.(?) p.(Pro138Ala) Maternal (confirmed) - likely pathogenic g.29824787C>G g.29813466C>G - - PRRT2_000005 - - - rs79182085 Germline - 2/13 - - - DNA PCR - - ICCA - - - M - China White 02y - yes carbamazepine 1 Zhu Jin Ling
-?/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - likely benign g.29824808C>T - PRRT2(NM_145239.2):c.433C>T (p.(Arg145Trp)) - MVP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? - c.439G>C r.(?) p.(Asp147His) Unknown - benign g.29824814G>C g.29813493G>C - - PRRT2_000006 submitted through SIB; ExPASy_067011 PubMed: Chen 2011 - rs79568162 Germline - - - - - DNA SEQ - - ? - PubMed: Chen 2011 - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.439G>C r.(?) p.(Asp147His) Unknown - likely benign g.29824814G>C g.29813493G>C PRRT2(NM_001256442.1):c.439G>C (p.(Asp147His)), PRRT2(NM_145239.2):c.439G>C (p.D147H) - PRRT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439G>C r.(?) p.(Asp147His) Unknown - likely benign g.29824814G>C - PRRT2(NM_001256442.1):c.439G>C (p.(Asp147His)), PRRT2(NM_145239.2):c.439G>C (p.D147H) - PRRT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.460C>T r.(?) p.(Pro154Ser) Unknown - likely benign g.29824835C>T g.29813514C>T PRRT2(NM_145239.2):c.460C>T (p.P154S) - PRRT2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.514_517del r.(?) p.Ser172Argfs*3 Unknown ACMG pathogenic g.29824889_29824892del g.29813568_29813571del - - PRRT2_000050 ACMG grading: PP1,PP5,PVS1,PM2; reported in Chen 2011. Nat Genet 43: 1252 Yang 2013. BMC Neurol 13: 209; Yang 2014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31: 679 - - rs730882065 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.521_530del r.(?) p.(Ser174Lysfs*52) Unknown ACMG likely pathogenic (dominant) g.29824896_29824905del g.29813575_29813584del - - PRRT2_000063 ACMG: PVS1, PM2_SUP - - - Germline - - - - - DNA SEQ-NG-I Blood WES DYT10 202498 - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - likely pathogenic (dominant) g.29824904G>A g.29813583G>A - - PRRT2_000059 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410887 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.543dup r.(?) p.(Gly182Trpfs*10) Unknown ACMG likely pathogenic (dominant) g.29824918dup - - - PRRT2_000061 ACMG: PVS1, PM2_sup: class 4 - - - Germline ? - - - - DNA SEQ-NG-I - - ICCA 175351 - - M ? Germany - - - - - 1 Andreas Laner
-?/. - c.564G>A r.(?) p.(Gln188=) Unknown - likely benign g.29824939G>A g.29813618G>A PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=) - MVP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564G>A r.(?) p.(Gln188=) Unknown - likely benign g.29824939G>A - PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=) - MVP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.564G>A r.(?) p.(Gln188=) Unknown - likely benign g.29824939G>A - PRRT2(NM_001256442.1):c.564G>A (p.(Gln188=)), PRRT2(NM_001256443.1):c.564G>A (p.Q188=), PRRT2(NM_145239.2):c.564G>A (p.Q188=) - MVP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565G>A r.(?) p.(Ala189Thr) Unknown - VUS g.29824940G>A g.29813619G>A - - MVP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580G>A r.(?) p.(Glu194Lys) Unknown - VUS g.29824955G>A g.29813634G>A PRRT2(NM_001256443.2):c.580G>A (p.E194K) - MVP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584G>A r.(?) p.(Gly195Asp) Unknown - VUS g.29824959G>A g.29813638G>A PRRT2(NM_001256443.1):c.584G>A (p.G195D) - PRRT2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.593_594del r.(?) p.Pro198Argfs*26 Unknown ACMG pathogenic g.29824968_29824969del g.29813647_29813648del - - PRRT2_000049 ACMG grading: PVS1,PM2,PP1 - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.603C>G r.(?) p.(His201Gln) Unknown - VUS g.29824978C>G - PRRT2(NM_145239.2):c.603C>G (p.(His201Gln)) - MVP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.621dup r.(?) p.(Ser208Ilefs*17) Unknown ACMG pathogenic g.29824996dup g.29813675dup - - PRRT2_000067 - - ClinVar-1323500 rs768603598 Germline ? - - - - DNA SEQ-NG-I peripheral blood WES seizures - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. 2 c.629del r.(?) p.(Pro210Glnfs*19) Unknown - VUS g.29825004del g.29813683del - - PRRT2_000002 - - - - Germline - - - - - DNA SEQ - - BFIS2 - PubMed: Schubert 2012 - - - - - - - - - 1 Yvonne Weber
+/. - c.629dup r.(?) p.(Ala211SerfsTer14) Unknown - pathogenic g.29825004dup g.29813683dup PRRT2(NM_001256443.2):c.629dupC (p.A211Sfs*14), PRRT2(NM_001256443.2):c.630delAinsCA (p.A211Sfs*14) - PRRT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.629dup r.(?) p.(Ala211Serfs*14) Unknown - pathogenic g.29825004dup g.29813683dup - - PRRT2_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - BFIS2 - - - F ? Netherlands White - - - - 1 Danique Vlaskamp
-/? - c.640G>C r.(?) p.(Ala214Pro) Unknown - benign g.29825015G>C g.29813694G>C - - PRRT2_000007 submitted through SIB; ExPASy_067012 PubMed: Chen 2011 - - Germline - - - - - DNA SEQ - - ? - PubMed: Chen 2011 - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.640G>C r.(?) p.(Ala214Pro) Unknown - likely benign g.29825015G>C - PRRT2(NM_145239.3):c.640G>C (p.A214P) - PRRT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? - c.644C>G r.(?) p.(Pro215Arg) Unknown - benign g.29825019C>G g.29813698C>G - - PRRT2_000010 submitted through SIB; ExPASy_067320 PubMed: Heron 2012 - rs200926711 Germline - - - - - DNA SEQ - - ? - PubMed: Heron 2012 - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.644C>G r.(?) p.(Pro215Arg) Unknown - likely benign g.29825019C>G g.29813698C>G PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R) - PRRT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644C>G r.(?) p.(Pro215Arg) Unknown - likely benign g.29825019C>G g.29813698C>G PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R) - PRRT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644C>G r.(?) p.(Pro215Arg) Unknown - likely benign g.29825019C>G - PRRT2(NM_001256443.1):c.644C>G (p.P215R), PRRT2(NM_145239.2):c.644C>G (p.P215R) - PRRT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>A r.(?) p.(Pro216His) Unknown - likely benign g.29825022C>A g.29813701C>A PRRT2(NM_145239.2):c.647C>A (p.P216H) - PRRT2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647C>A r.(?) p.(Pro216His) Unknown - VUS g.29825022C>A g.29813701C>A PRRT2(NM_145239.2):c.647C>A (p.P216H) - PRRT2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>G r.(?) p.(Pro216Arg) Unknown - likely benign g.29825022C>G g.29813701C>G PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R) - PRRT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647C>G r.(?) p.(Pro216Arg) Unknown - VUS g.29825022C>G g.29813701C>G PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R) - PRRT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>G r.(?) p.(Pro216Arg) Unknown - likely benign g.29825022C>G - PRRT2(NM_001256443.2):c.647C>G (p.P216R), PRRT2(NM_145239.2):c.647C>G (p.P216R) - PRRT2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? - c.647C>T r.(?) p.(Pro216Leu) Unknown - benign g.29825022C>T g.29813701C>T - - PRRT2_000011 submitted through SIB; ExPASy_067321 PubMed: Heron 2012 - rs76335820 Germline - - - - - DNA SEQ - - ? - PubMed: Heron 2012 - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely benign g.29825022C>T g.29813701C>T PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L) - PRRT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely benign g.29825022C>T g.29813701C>T PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L) - PRRT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely benign g.29825022C>T g.29813701C>T PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L) - PRRT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>T r.(?) p.(Pro216Leu) Unknown - likely benign g.29825022C>T g.29813701C>T PRRT2(NM_001256442.1):c.647C>T (p.(Pro216Leu)), PRRT2(NM_001256443.2):c.647C>T (p.P216L), PRRT2(NM_145239.2):c.647C>T (p.P216L) - PRRT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217Ter) Unknown - pathogenic g.29825024C>T g.29813703C>T PRRT2(NM_145239.2):c.649C>T (p.R217*), PRRT2(NM_145239.3):c.649C>T (p.R217*) - PRRT2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217Ter) Unknown - pathogenic g.29825024C>T - PRRT2(NM_145239.2):c.649C>T (p.R217*), PRRT2(NM_145239.3):c.649C>T (p.R217*) - PRRT2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649del r.(?) p.(Arg217GlufsTer12) Unknown - pathogenic g.29825024del g.29813703del PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12) - PRRT2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649del r.(?) p.(Arg217GlufsTer12) Unknown - pathogenic g.29825024del g.29813703del PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12) - PRRT2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649del r.(?) p.(Arg217GlufsTer12) Unknown - pathogenic g.29825024del g.29813703del PRRT2(NM_001256443.2):c.649delC (p.R217Efs*12), PRRT2(NM_145239.2):c.649delC (p.R217Efs*12) - PRRT2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649dup r.(?) p.(Arg217Profs*8) Parent #1 - pathogenic g.29825024dup g.29813703dup - - PRRT2_000022 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - VUS g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline - - - - - DNA SEQ - - BFIS2 - PubMed: Schubert 2012 - - - - - - - - - 1 Yvonne Weber
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup g.29813703dup PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P... - PRRT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup g.29813703dup PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P... - PRRT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BFIS2 - - - M - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - ? - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BFIS2 - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ICCA - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ICCA - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - BFIS2 - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - Netherlands white - - - - 1 Danique Vlaskamp
+/. 2 c.649dup r.(?) p.(Arg217Profs*8) Unknown - pathogenic g.29825024dup g.29813703dup 649dupC - PRRT2_000001 - - - - Germline/De novo (untested) ? - - - - DNA SEQ - - ? - - - F - Netherlands white - - - - 1 Danique Vlaskamp
+/. - c.649dup r.(?) p.(Arg217Profs*8) Unknown ACMG pathogenic g.29825024dup g.29813703dup - - PRRT2_000001 ACMG grading: PVS1,PP5,PP1,PS3 - - rs772994486 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup g.29813703dup PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P... - PRRT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649dup r.(?) p.(Arg217Profs*8) Unknown ACMG pathogenic g.29825024dup g.29813703dup - - PRRT2_000001 ACMG grading: PVS1, PS3, PP1, PP5; variant reported in Chen 2001. Nat Genet 43: 1252; Heron 2012. Am J Hum Genet 90: 152; Wu 2014. Parkinsonism Relat Disord 20: 1399; Liu 2016. Neurol Genet 2: 66; Lu 2018. Cold Spring Harb Mol Case Stud 1: 2287 - - rs772994486 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.649dup r.(?) p.(Arg217Profs*8) Unknown ACMG pathogenic g.29825024dup g.29813703dup - - PRRT2_000001 ACMG grading: PP5, PP1, PVS1, PS3; variant reported in Chen 2001. Nat Genet 43: 1252; Heron 2012. Am J Hum Genet 90: 152; Wu 2014. Parkinsonism Relat Disord 20: 1399; Liu 2016. Neurol Genet 2: 66; Lu 2018. Cold Spring Harb Mol Case Stud 1: 2287 - - rs772994486 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.649dup r.(?) p.(Arg217Profs*8) Unknown ACMG pathogenic g.29825024dup g.29813703dup - - PRRT2_000001 Chen et al. 2001. Nat Genet 43: 1252; Heron et al. 2012. Am J Hum Genet 90: 152; Wu et al. 2014. Parkinsonism Relat Disord 20: 1399; Liu et al. 2016. Neurol Genet 2: 66; Lu et al. 2018. Cold Spring Harb Mol Case Stud 1: 2287 - - rs772994486 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup - PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P... - PRRT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Both (homozygous) ACMG pathogenic (recessive) g.29825024dup g.29813703dup - - PRRT2_000001 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M003 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents once removed - yes - Kurd - - - - 2 Johan den Dunnen
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup g.29813703dup c.649dupC - PRRT2_000001 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - clincal WES ? Pat37 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup - PRRT2(NM_001256442.1):c.649dup (p.(Arg217Profs*8)), PRRT2(NM_001256443.1):c.649dupC (p.R217Pfs*8), PRRT2(NM_001256443.2):c.649dupC (p.R217Pfs*8), P... - PRRT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649dup r.(?) p.(Arg217ProfsTer8) Unknown - pathogenic g.29825024dup - - - PRRT2_000001 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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